OTOF

Name

otoferlin

Type

protein-coding

Position

26,457,203–26,558,756 (−)

Aliases

AUNB1, DFNB6, DFNB9, FER1L2, NSRD9

Ensembl

ENSG00000115155

RefSeq RNA

NM_001287489.2, NM_004802.4, NM_194248.3, NM_194322.3, NM_194323.3

RefSeq protein

NP_001274418.1, NP_004793.2, NP_919224.1, NP_919303.1, NP_919304.1

Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008].